Ⅰ型唾液酸沉积症一例  

TypeⅠsialidosis:a case report

作　　者：黎银潮 陈树达[1] 刘贤岳 赵怡然 王诚蔗 周列民 Li Yinchao;Chen Shuda;Liu Xianyue;Zhao Yiran;Wang Chengzhe;Zhou Liemin(Department of Neurology,the Seventh Affiliated Hospital,Sun Yat-sen University,Shenzhen 518107,China;Department of Neurology,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第七医院神经医学中心,深圳518107 [2]中山大学附属第一医院神经内科,广州510080

出　　处：《中华神经科杂志》2021年第3期251-254,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金(81571266,81771405,82071447);深圳市“医疗卫生三名工程”项目(SZSM201911003)。

摘　　要：Ⅰ型唾液酸沉积症是一种罕见的常染色体隐性遗传疾病,主要表现为小脑性共济失调、肌阵挛和黄斑性樱桃红斑,通过基因检测发现α-N-乙酰神经氨酸酶(NEU1)基因突变或实验室检查发现神经氨酸苷酶缺乏时,就可以做出明确诊断。现报道1例31岁男性Ⅰ型唾液酸沉积症患者,并结合文献复习以提高临床医师对该疾病的认识与诊治水平。本例Ⅰ型唾液酸沉积症患者有视力下降、共济失调、肌阵挛发作,全外显子测序发现患者6号染色体NEU1基因c.544A>G(p.Ser182Gly)纯合突变。TypeⅠsialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase.It is an autosomal recessive disorder,maybe heterogeneous in its onset,clinical manifestations and prognosis.A case of typeⅠsialidosis with a missense mutation in theα-N-acetyl-neuraminidase(NEU1)gene is reported.The patient was characterized by reduced visual acuity,ataxia and subcortical myoclonus.Although the macular cherry red spots were not detected in the male patient,his bilateral visual evoked potential showed severely prolonged latencies of P100,which was consistent with continuous decline of his visions.Finally,he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus.In order to make the definite diagnosis,the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted.Regardless of being an uncommon disorder,the burden for those patients with sialidosis was significant.Therefore,this diagnosis in the relevant setting should always be considered.

关 键 词：黏脂质累积病 癫痫 NEU1基因 

分 类 号：R596.1[医药卫生—内科学]